Human Genome Variation · 2019 · 15 citations · 8 references
Life SciencesBioinformaticsGeneticsGenomicsImmunogeneticsMedical GeneticsDisease Susceptibility LociGenome-wide Association StudiesGenomic Data IntegrationGenomic DatabasesGenomics IntegrationVariant AnalysisClinical Genomic Data IntegrationClinical Genomic DatabasesGenotype-phenotype DatabasesHla AllelesHla Genotype AssociationsHla Reference DatabasesHla Risk AllelesVariant Data Integration
To promote the implementation of genomic medicine, we developed an integrated database, the Medical Genomics Japan Variant Database (MGeND). In its first release, MGeND provides data regarding genomic variations in Japanese individuals, collected by research groups in five disease fields. These variations consist of curated SNV/INDEL variants and susceptibility variants for diseases established by genome-wide association study analysis. Furthermore, we recorded the frequencies of HLA alleles in infectious disease populations.
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ClinVar: public archive of interpretations of clinically relevant variants
Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text